Canonical Allele Identifier: CA392377240

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534737A>C (hg19) ; chr15:g.50242540A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242540A>C , CM000677.2:g.50242540A>C	GRCh38
NC_000015.9:g.50534737A>C , CM000677.1:g.50534737A>C	GRCh37
NC_000015.8:g.48322029A>C	NCBI36
NG_027487.1:g.28426T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1709T>G MANE Select	ENSP00000267845.3:p.Phe570Cys
ENST00000267845.7:c.1709T>G	ENSP00000267845.3:p.Phe570Cys
ENST00000543581.5:c.1610T>G	ENSP00000440252.1:p.Phe537Cys
ENST00000559816.1:n.1453T>G
NM_001306146.1:c.1610T>G	NP_001293075.1:p.Phe537Cys
NM_002112.3:c.1709T>G	NP_002103.2:p.Phe570Cys
XM_011521479.1:c.1472T>G	XP_011519781.1:p.Phe491Cys
XM_011521480.1:c.1277T>G	XP_011519782.1:p.Phe426Cys
XM_017022094.1:c.1814T>G	XP_016877583.1:p.Phe605Cys
XM_017022095.1:c.1715T>G	XP_016877584.1:p.Phe572Cys
XM_017022096.1:c.1586T>G	XP_016877585.1:p.Phe529Cys
XM_017022097.1:c.1577T>G	XP_016877586.1:p.Phe526Cys
XM_017022098.1:c.1382T>G	XP_016877587.1:p.Phe461Cys
NM_002112.4:c.1709T>G MANE Select	NP_002103.2:p.Phe570Cys
NM_001306146.2:c.1610T>G	NP_001293075.1:p.Phe537Cys